Canonical Allele Identifier: CA1490026059

Gene: BBS7

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.121854922_121854924delinsTAA , CM000666.2:g.121854922_121854924delinsTAA	GRCh38
NC_000004.11:g.122776077_122776079delinsTAA , CM000666.1:g.122776077_122776079delinsTAA	GRCh37
NC_000004.10:g.122995527_122995529delinsTAA	NCBI36
NG_009111.1:g.20564_20566delinsTTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264499.9:c.602-104_602-102delinsTTA MANE Select	ENSP00000264499.4:n.602-104_602-102delinsTTA
ENST00000264499.8:c.602-104_602-102delinsTTA	ENSP00000264499.4:n.602-104_602-102delinsTTA
ENST00000506636.1:c.602-104_602-102delinsTTA	ENSP00000423626.1:n.602-104_602-102delinsTTA
NM_018190.3:c.602-104_602-102delinsTTA	NP_060660.2:n.602-104_602-102delinsTTA
NM_176824.2:c.602-104_602-102delinsTTA	NP_789794.1:n.602-104_602-102delinsTTA
XM_005263106.2:c.602-101_602-99delinsTTA	XP_005263163.1:n.602-101_602-99delinsTTA
XM_011532079.1:c.647-101_647-99delinsTTA	XP_011530381.1:n.647-101_647-99delinsTTA
XM_011532080.1:c.647-104_647-102delinsTTA	XP_011530382.1:n.647-104_647-102delinsTTA
XM_011532081.1:c.647-101_647-99delinsTTA	XP_011530383.1:n.647-101_647-99delinsTTA
XM_005263106.4:c.602-101_602-99delinsTTA	XP_005263163.1:n.602-101_602-99delinsTTA
XM_011532079.3:c.647-101_647-99delinsTTA	XP_011530381.1:n.647-101_647-99delinsTTA
XM_011532080.3:c.647-104_647-102delinsTTA	XP_011530382.1:n.647-104_647-102delinsTTA
XM_011532081.3:c.647-101_647-99delinsTTA	XP_011530383.1:n.647-101_647-99delinsTTA
XM_017008357.2:c.602-104_602-102delinsTTA	XP_016863846.1:n.602-104_602-102delinsTTA
XM_017008358.2:c.602-101_602-99delinsTTA	XP_016863847.1:n.602-101_602-99delinsTTA
NM_176824.3:c.602-104_602-102delinsTTA MANE Select	NP_789794.1:n.602-104_602-102delinsTTA
NM_018190.4:c.602-104_602-102delinsTTA	NP_060660.2:n.602-104_602-102delinsTTA